A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.

doi:10.1210/jcem.84.7.5862

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Article

A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Jul 1999

van de Graaf S A, Ris-Stalpers C, Veenboer G J, Cammenga M, Santos C, Targovnik H M, de Vijlder J J, Medeiros-Neto G

Abstract excerpt

Impaired thyroglobulin (Tg) synthesis is one of the putative causes for dyshormonogenesis of the thyroid gland. This type of hypothyroidism is characterized by intact iodide trapping, normal organification of iodide, and usually low serum Tg levels in relation to high TSH, and when untreated the patients develop goiter. In thyroid tissue from a 13-yr-old patient suspected of a thyroglobulin synthesis defect, the...

Topics

Adolescent
Alternative Splicing
Amino Acid Sequence
Base Sequence
Child, Preschool
Codon
Female
Goiter
Humans
Hypothyroidism
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Peptide Fragments

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 10404833
DOI: 10.1210/jcem.84.7.5862

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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